Variant report

Variant	rs9291122
Chromosome Location	chr4:6930217-6930218
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:6909963..6912664-chr4:6925024..6930247,5	MCF-7	breast:
2	chr4:6928082..6930342-chr4:6930567..6933330,2	MCF-7	breast:
3	chr4:6720666..6722228-chr4:6930174..6933123,2	K562	blood:
4	chr4:6926678..6930436-chr4:6987384..6989801,3	K562	blood:

Variant related genes	Relation type
ENSG00000132405	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10009332	0.87[ASN][1000 genomes]
rs10012305	0.90[ASN][1000 genomes]
rs10019900	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10937762	0.83[ASN][1000 genomes]
rs10937766	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10937769	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10937771	0.87[ASN][1000 genomes]
rs11723686	0.87[ASN][1000 genomes]
rs11731681	0.85[ASN][1000 genomes]
rs11732389	0.89[ASN][1000 genomes]
rs11942739	0.84[ASN][1000 genomes]
rs12512922	0.83[ASN][1000 genomes]
rs12646620	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12646621	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13103361	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13114976	0.87[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs13435015	0.84[ASN][1000 genomes]
rs28392702	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28463777	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28523495	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28601619	0.82[ASN][1000 genomes]
rs28703753	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34760356	0.85[ASN][1000 genomes]
rs35296019	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35490604	0.86[ASN][1000 genomes]
rs3892976	0.83[ASN][1000 genomes]
rs4234790	0.87[ASN][1000 genomes]
rs4290891	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4315786	0.84[ASN][1000 genomes]
rs4484301	0.86[ASN][1000 genomes]
rs4513567	0.88[ASN][1000 genomes]
rs4608812	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4689055	0.91[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs4689558	0.85[ASN][1000 genomes]
rs4689562	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6446550	0.81[ASN][1000 genomes]
rs6446551	0.81[ASN][1000 genomes]
rs6446552	0.81[ASN][1000 genomes]
rs6834007	0.85[ASN][1000 genomes]
rs6852468	0.94[ASN][1000 genomes]
rs7657702	0.85[ASN][1000 genomes]
rs7668186	0.89[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs7689337	0.81[ASN][1000 genomes]
rs9291121	0.87[AFR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9291123	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9291124	0.81[AFR][1000 genomes]
rs9999127	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878529	chr4:6883012-6983677	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv878530	chr4:6888932-7058473	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv980396	chr4:6929613-6942211	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6919600-6942200	Weak transcription	Hela-S3	cervix
2	chr4:6920200-6939600	Weak transcription	HUVEC	blood vessel
3	chr4:6920400-6931000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr4:6923200-6930800	Weak transcription	Stomach Mucosa	stomach
5	chr4:6924400-6930600	Weak transcription	Fetal Brain Male	brain
6	chr4:6925800-6931400	Weak transcription	HSMMtube	muscle
7	chr4:6926000-6930600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr4:6926200-6930800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:6926200-6942000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr4:6926200-6942600	Weak transcription	NHEK	skin
11	chr4:6926200-6943200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:6926600-6930800	Weak transcription	Brain Angular Gyrus	brain
13	chr4:6926600-6930800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr4:6926600-6931000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr4:6926600-6932200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr4:6926600-6933400	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr4:6926600-6935000	Enhancers	Liver	Liver
18	chr4:6926600-6939200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr4:6926800-6930600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr4:6926800-6932200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr4:6927000-6930600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr4:6927200-6932200	Enhancers	Adipose Nuclei	Adipose
23	chr4:6927200-6932200	Genic enhancers	Thymus	Thymus
24	chr4:6927400-6930400	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr4:6927600-6931200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr4:6927600-6931600	Enhancers	Right Atrium	heart
27	chr4:6927600-6932200	Enhancers	Placenta	Placenta
28	chr4:6927800-6930800	Weak transcription	Colon Smooth Muscle	Colon
29	chr4:6927800-6931400	Genic enhancers	Fetal Intestine Small	intestine
30	chr4:6928000-6930600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr4:6928000-6931000	Weak transcription	Fetal Brain Female	brain
32	chr4:6928000-6931200	Enhancers	Colonic Mucosa	Colon
33	chr4:6928000-6931400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr4:6928000-6932000	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr4:6928000-6932200	Enhancers	Brain Anterior Caudate	brain
36	chr4:6928000-6932200	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr4:6928000-6932400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr4:6928000-6932400	Enhancers	Fetal Thymus	thymus
39	chr4:6928000-6933200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr4:6928000-6934600	Weak transcription	Esophagus	oesophagus
41	chr4:6928000-6937400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr4:6928000-6939200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr4:6928000-6942000	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr4:6928000-6969600	Weak transcription	Aorta	Aorta
45	chr4:6928200-6930800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr4:6928200-6931200	Weak transcription	Primary B cells from peripheral blood	blood
47	chr4:6928200-6931400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:6928400-6930600	Weak transcription	Stomach Smooth Muscle	stomach
49	chr4:6928600-6932200	Enhancers	Fetal Muscle Leg	muscle
50	chr4:6928600-6932200	Enhancers	Left Ventricle	heart

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